Variant #0000006449 (NC_000005.9:g.138643318G>A, MATR3(NM_199189.2):c.214G>A)

Individual ID 00006459
Chromosome 5
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.138643318G>A
Reference Kon-Ping Lin, Pei-Chien Tsai, Yi-Chu Liao, et al.
DB-ID MATR3_000005
Frequency -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner XY Liu
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by XY Liu
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
MATR3 NM_199189.2 ?/. 5 c.214G>A r.(?) p.(Ala72Thr) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000006483 ? ? MATR3 1 XY Liu